Журнал «Практическая онкология» Том 7, №1, 2024
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Молекулярні біомаркери в менеджменті пацієнтів з недрібноклітинним раком легень
Авторы: Сулаєва О. (1, 2), Потоцька О. (3), Козаков Д. (1), Лівшун С. (1), Панько М. (1), Винниченко О. (4), Москаленко Ю. (5), Москаленко Р. (5)
(1) - Медична лабораторія CSD LAB, м. Київ, Україна
(2) - Національний медичний університет імені О.О. Богомольця, м. Київ, Україна
(3) - Університет Калгарі, Медична школа Каммінга, м. Калгарі, Альберта, Канада
(4) - Сумський обласний клінічний онкологічний центр, м. Суми, Україна
(5) - Медичний інститут Сумського державного університету, м. Суми, Україна
Рубрики: Онкология
Разделы: Справочник специалиста
Версия для печати
Резюме
Недрібноклітинний рак легень (НДКРЛ) є одною з провідних причин смертності в онкології. Упровадження в клінічну практику таргетної терапії та імунотерапії дозволило досягти суттєвого прогресу в поліпшенні результатів лікування хворих на НДКРЛ. Вибір стратегії лікування ґрунтується на результатах мультигенного тестування НДКРЛ з оцінкою відповідного спектра клінічно значущих біомаркерів. У цьому огляді автори систематизували дані щодо молекулярного профілю НДКРЛ різних гістологічних типів і впливу генетичних альтерацій на чутливість до різних варіантів терапії, навели аналіз поточних настанов і рекомендацій щодо молекулярного тестування пацієнтів з НДКРЛ, сформулювали вимоги щодо вибору оптимальних зразків біоматеріалу і методів тестування НДКРЛ. З огляду на широкий спектр клінічно значущих мутацій при НДКРЛ оптимальним методом генетичного тестування є NGS. При неможливості проведення NGS частина клінічно значущих генетичних альтерацій може бути визначена за допомогою полімеразної ланцюгової реакції, FISH або імуногістохімії. У разі неможливості отримання зразку пухлинної тканини мультигенне тестування НДКРЛ ІІІ–ІV стадії рекомендовано проводити методом рідкої біопсії з використанням плазми крові, яка містить циркулюючу пухлинну ДНК. Дослідження циркулюючої пухлинної ДНК у крові дозволяє визначити мінімальну залишкову хворобу, визначити ефективність проведеної терапії, оцінити ризик рецидиву і прогноз.
Due to a high mortality rate, non-small cell lung cancer (NSCLC) has been in focus of continuous research worldwide. Implementing targeted therapy and immunotherapy into clinical practice become a breakthrough in fighting this malignancy, and the list of anti-cancer agents is growing. The development of therapeutic strategies requires the corresponding multigene molecular testing for defining actionable genetic alterations. In this review, the authors summarize the latest data on NSCLC molecular profiling with respect to a histological type of NSCLC, key genetic alterations and their impact on patients’ management, requirements to biological material and methods applied for genetic testing. Considering the wide range of clinically relevant genetic alterations in NSCLC, the best method of molecular diagnosis is next-generation sequencing, based both on DNA and RNA sequencing. When next-generation sequencing is not available, some driver mutations can be detected by polymerase chain reaction, fluorescence in situ hybridization, or immunohistochemistry. If a tumor tissue sample can’t be obtained, multigene testing for NSCLC stage III–IV can be performed using liquid biopsy tools, which uses blood plasma containing circulating tumor DNA. Discovering molecular profile before treatment is essential for predicting tumor sensitivity or resistance to targeted therapy and monitoring the disease course. Assessing circulating tumor DNA in blood enables detecting minimal residual disease before clinical symptoms, evaluating the efficiency of the therapy, assessing the risk of relapse and patient’s prognosis.
Ключевые слова
недрібноклітинний рак легень; драйверні мутації; таргетна терапія; імунотерапія; NGS; полімеразна ланцюгова реакція; FISH
non-small cell lung cancer; driver mutations; targeted therapy; immunotherapy; next-generation sequencing; polymerase chain reaction; fluorescence in situ hybridization
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